{
    "disease_id": "DOID:0060820",
    "recommended_name": {
        "id": "DOID:0060820",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060820",
        "name": "syndromic X-linked intellectual disability Nascimento type",
        "description": "A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24."
    },
    "synonyms": [
        {
            "id": "DOID:0060820",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060820",
            "name": "mental retardation, X-linked syndromic, Nascimento-type",
            "description": ""
        },
        {
            "id": "DOID:0060820",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060820",
            "name": "X-linked intellectual disability-nail dystrophy-seizures syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010461",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010461",
            "name": "syndromic X-linked intellectual disability Nascimento type",
            "description": "X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures."
        },
        {
            "id": "MONDO:0010461",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010461",
            "name": "X-linked intellectual disability-nail dystrophy-seizures syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010461",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010461",
            "name": "intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010461",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010461",
            "name": "intellectual disability, X-linked syndromic, Nascimento-type",
            "description": ""
        },
        {
            "id": "MONDO:0010461",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010461",
            "name": "syndromic X-linked intellectual disability Nascimento type",
            "description": ""
        },
        {
            "id": "MONDO:0010461",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010461",
            "name": "MRXSN",
            "description": ""
        },
        {
            "id": "MONDO:0010461",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010461",
            "name": "intellectual disability, X-linked, syndromic, Nascimento type",
            "description": ""
        },
        {
            "id": "MONDO:0010461",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010461",
            "name": "mental retardation, X-linked, syndromic 30",
            "description": ""
        },
        {
            "id": "MONDO:0010461",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010461",
            "name": "mental retardation, X-linked, syndromic, Nascimento type",
            "description": ""
        },
        {
            "id": "MIM:300860",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300860",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Nascimento-type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Nascimento-type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060820"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060820",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060820",
            "categories": []
        },
        {
            "id": "MONDO:0010461",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010461",
            "categories": []
        },
        {
            "id": "MIM:300860",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300860",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z255-1",
            "uniprot_ac": "Q9Z255",
            "uniprot_id": "UBE2A_MOUSE",
            "refseq_ac": "NP_062642",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-conjugating enzyme E2 A",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.23",
                    "type": "synonym"
                },
                {
                    "name": "E2 ubiquitin-conjugating enzyme A",
                    "type": "synonym"
                },
                {
                    "name": "HR6A",
                    "type": "synonym"
                },
                {
                    "name": "RAD6 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin carrier protein A",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-protein ligase A",
                    "type": "synonym"
                },
                {
                    "name": "mHR6A",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carrier protein A",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-conjugating enzyme E2 A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-conjugating enzyme E2A (RAD6 homolog)",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-conjugating enzyme HR6A",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-protein ligase A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ube2a",
                    "type": "recommended"
                },
                {
                    "name": "HHR6A",
                    "type": "synonym"
                },
                {
                    "name": "HR6A",
                    "type": "synonym"
                },
                {
                    "name": "Mhr6a",
                    "type": "synonym"
                },
                {
                    "name": "Rad6a",
                    "type": "synonym"
                },
                {
                    "name": "Ube2a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z255-1",
            "evidence": [
                {
                    "id": "0060820",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060820"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49459-1",
            "uniprot_ac": "P49459",
            "uniprot_id": "UBE2A_HUMAN",
            "refseq_ac": "NP_001269090",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-conjugating enzyme E2 A",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.23",
                    "type": "synonym"
                },
                {
                    "name": "E2 ubiquitin-conjugating enzyme A",
                    "type": "synonym"
                },
                {
                    "name": "HR6A",
                    "type": "synonym"
                },
                {
                    "name": "RAD6 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin carrier protein A",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-protein ligase A",
                    "type": "synonym"
                },
                {
                    "name": "hHR6A",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carrier protein A",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-conjugating enzyme E2 A isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-conjugating enzyme E2A",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-protein ligase A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UBE2A",
                    "type": "recommended"
                },
                {
                    "name": "HHR6A",
                    "type": "synonym"
                },
                {
                    "name": "MRXS30",
                    "type": "synonym"
                },
                {
                    "name": "MRXSN",
                    "type": "synonym"
                },
                {
                    "name": "RAD6A",
                    "type": "synonym"
                },
                {
                    "name": "UBC2",
                    "type": "synonym"
                },
                {
                    "name": "UBE2A",
                    "type": "synonym"
                }
            ],
            "record_id": "P49459-1",
            "evidence": [
                {
                    "id": "300860",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300860"
                },
                {
                    "id": "0060820",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060820"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06104-1",
            "uniprot_ac": "P06104",
            "uniprot_id": "UBC2_YEAST",
            "refseq_ac": "NP_011457",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-conjugating enzyme E2 2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.23",
                    "type": "synonym"
                },
                {
                    "name": "E2 ubiquitin-conjugating enzyme 2",
                    "type": "synonym"
                },
                {
                    "name": "E2 ubiquitin-conjugating protein RAD6",
                    "type": "synonym"
                },
                {
                    "name": "Radiation sensitivity protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin carrier protein UBC2",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-protein ligase UBC2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAD6",
                    "type": "recommended"
                },
                {
                    "name": "PSO8",
                    "type": "synonym"
                },
                {
                    "name": "RAD6",
                    "type": "synonym"
                },
                {
                    "name": "UBC2",
                    "type": "synonym"
                }
            ],
            "record_id": "P06104-1",
            "evidence": [
                {
                    "id": "0060820",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060820"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7EWP1-1",
            "uniprot_ac": "F7EWP1",
            "uniprot_id": "F7EWP1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E2 ubiquitin-conjugating enzyme",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ube2a",
                    "type": "recommended"
                }
            ],
            "record_id": "F7EWP1-1",
            "evidence": [
                {
                    "id": "0060820",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060820"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25153-1",
            "uniprot_ac": "P25153",
            "uniprot_id": "UBCD6_DROME",
            "refseq_ac": "NP_001246916",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-conjugating enzyme E2-17 kDa",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.23",
                    "type": "synonym"
                },
                {
                    "name": "CG2013-PC",
                    "type": "synonym"
                },
                {
                    "name": "E2 ubiquitin-conjugating enzyme 6",
                    "type": "synonym"
                },
                {
                    "name": "RAD6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ubc6-PC",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-protein ligase",
                    "type": "synonym"
                },
                {
                    "name": "dRad6",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin conjugating enzyme 6, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin conjugating enzyme",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ubc6",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE56673",
                    "type": "synonym"
                },
                {
                    "name": "CG2013",
                    "type": "synonym"
                },
                {
                    "name": "Dhr6",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2013",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2013",
                    "type": "synonym"
                },
                {
                    "name": "RAD6",
                    "type": "synonym"
                },
                {
                    "name": "Rad6a",
                    "type": "synonym"
                },
                {
                    "name": "Rad6",
                    "type": "synonym"
                },
                {
                    "name": "UBC6",
                    "type": "synonym"
                },
                {
                    "name": "Ubc6",
                    "type": "synonym"
                },
                {
                    "name": "UbcD6",
                    "type": "synonym"
                },
                {
                    "name": "Ubcd6",
                    "type": "synonym"
                },
                {
                    "name": "dRAD6",
                    "type": "synonym"
                },
                {
                    "name": "dRad6",
                    "type": "synonym"
                }
            ],
            "record_id": "P25153-1",
            "evidence": [
                {
                    "id": "0060820",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060820"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060820"
}